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Abstract #13644 Published in IGR 8-2
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation
Nwosu BU; Raygada M; Tsilou ET; Rennert OM; Stratakis CAOphthalmic Genetics 2005; 26: 135-138
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly and other associated ocular abnormalities. He carried a COL1A1 mutation (c.3313delA) that has only rarely been seen in OI. The association of ocular anterior chamber abnormalities with OI has not been reported previously, while OI with Ehlers-Danlos syndrome features has only been described in some kindreds. The patient had serious complications as a result of his ocular anomalies. We speculate that the course of his disease and, perhaps, its co-existence with OI could be exacerbated by his collagen type-I defect, although no causality can be established by this report of a single case.
Dr. C.A. Stratakis, Section on Endocrinology and Genetics, NICHD, NIH, 10 Center Dr., Bethesda, MD 20892-1862, USA
Classification:
9.1.4 Other (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
